Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38864286G>C , CM000675.2:g.38864286G>C | GRCh38 |
| NC_000013.10:g.39438423G>C , CM000675.1:g.39438423G>C | GRCh37 |
| NC_000013.9:g.38336423G>C | NCBI36 |
| NG_008125.2:g.182251G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.7663G>C MANE Select | NP_997244.4:p.Val2555Leu |
| ENST00000280481.9:c.7663G>C MANE Select | ENSP00000280481.7:p.Val2555Leu |
| NM_207361.5:c.7663G>C | NP_997244.4:p.Val2555Leu |
| ENST00000280481.8:c.7663G>C | ENSP00000280481.7:p.Val2555Leu |